APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 41 1989 2016
dbSNP: rs144467873
rs144467873 		0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1995 2014
dbSNP: rs146377316
rs146377316 		0.925 0.080 2 21007693 missense variant G/A;T snv 8.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012